Item:

O.ld: 21341
~'?Mark ~
Prevoous
f>
Next
a
Lab Values
~
Notes
~
Calculator
,
Reverse Color
GJIIA)
Text Zoom

A 3-year-old boy is brought to the emergency department for 2 days of fever, cough, and
worsening shortness of breath. His parents report that he recently recovered from
prolonged diarrhea due to Giardia infection. His medical history is also significant for
lobar pneumonia requiring hospitalization and recurrent ear infections treated with
antibiotics since age 6 months. His temperature is 38.7 C (101.7 F), pulse is 140/min,
and respirations are 60/min. Physical examination shows small tonsils and crackles in
the lower lobe of the right lung. The child's growth is at the 40th percentile. Which of the
following is the most likely cause of his recurrent infections?

o A. Abnormal B lymphocyte maturation

0 B. Adenosine deaminase deficiency
o C. Complement deficiency
o D. Impaired oxidative burst
o E. Thymic hypoplasia

Submit

~
------------------------------------------------------
Feedback Su~nd EnQ ock
Item: ~'?Mark ~ f> 6t ~ ~ , GJIIA)
a. ld : 21 ;.}4 PreVIOUS Next lab Values Notes Calculator Reverse Color Text Zoom

A 3-year-old boy is brought to the emergency department for 2 days of fever, cough, and
worsening shortness of breath. His parents report that he recently recovered from
prolonged diarrhea due to Giardia infection. His medical history is also significant for
lobar pneumonia requiring hospitalization and recurrent ear infections treated with
antibiotics since age 6 months. His temperature is 38.7 C (101 .7 F), pulse is 140/min,
and respirations are 60/min. Physical examination shows small tonsils and crackles in
the lower lobe of the right lung. The child's growth is at the 40th percentile. Which of the
following is the most likely cause of his recurrent infections?

A. Abnormal 8 lymphocyte maturation [64%)

B. Adenosine deaminase deficiency [16%)
C. Complement deficiency [4%)
D. Impaired oxidative burst [7%)
E. Thymic hypoplasia [8%)

Proceed to Next Item

Explanation: User ld

X·linked agammaglobulinemia

• Recurrent sinopulmonary & gastrointestinal infections

Clinical after age 6 moriths
manifestations • Absence of lymphoid tissue on examination
(eg, tonsils, lymph nodes)

• 1 Immunoglobulins & 8 cells

Diagnosis • Normal T cell concentration
• No response to vaccinations

• Immunoglobulin replacement therapy

Treatment
• Prophylactic antibiotics if severe
@UWorld

This child's history of recurrent sinopulmonary and gastrointestinal infections beginning

after age 6 months along with his small tonsils suggest X-linked agammaglobulinemia

Feedback EnQ ock

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~-
This child's history of recurrent sinopulmonary and gastrointestinal infections beginning
after age 6 months along with his small tonsils suggest X·linked agammaglobulinemia
(XLA), or Bruton agammaglobulinemia. XLA is caused by a defect in tyrosine kinase that
prevents the development of mature B cells. Low B cell concentrations lead to small or
absent lymphoid tissue (eg, tonsils, adenoids) on physical examination and low or absent
serum immunoglobulin concentrations. Infants with XLA are predisposed to recurrent
sinopulmonary infections with encapsulated organisms such as Haemophil us
influenzae and Streptococcus pneumoniae due to impaired humoral immunity response.
The absence of lgA leads to increased risk for gastrointestinal infections (eg, Giardia).
Patients usually present after age 6 months, when protection from maternally-acquired
lgG begins to wane.
Treatment of XLA is based on restoring serum immunoglobulin concentrations, which is
accomplished by administering monthly intravenous immunoglobulin. Antibiotics are
given for infections and may be given prophylactically if intravenous immunoglobulin
alone is unsuccessful. Live vaccines are contraindicated in XLA: other vaccines are not
contraindicated but are incapable of generating a meaningful antibody response in
patients with XLA.

(Choice S) Adenosine deaminase deficiency is one of several gene defects resulting in

impaired T cell development and causing severe combined immunodeficiency. Affected
patients present with severe, recurrent viral, fungal (eg, Candida), and bacterial
infections and failure to thrive.
(Choice C) Patients with complement deficiencies are at increased risk for disseminated
bacterial infections, particularly with encapsulated bacteria (eg, Streptococcus
pneumoniae, Neisseria meningitidis). Giardia infection is not associated with
complement deficiencies.

(Choi~e 0) Impaired oxidative burst occurs in chronic granulomatous disease. Patients

with this disease have recurrent skin and pulmonary infections with catalase-positive
organisms (eg, Staphylococcus aureus, Serratia marcescens).

(Choice E) Thymic hypoplasia is consistent with DiGeorge syndrome (22q11 .2

microdeletion syndrome), which is characterized by hypocalcemia, cardiac defects, and
failure to thrive in addition to recurrent infections.
Educational objective:
X-linked agammaglobulinemia (Bruton agammaglobulinemia) results from a failure of B
cell development. Affected patients have small or absent lymphoid tissue and experience
recurrent sinopulmonary and gastrointestinal infections once protection from

Feedback EnQ ock

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~-
Item:
0. ld : 21:34
~'?Mark ~
Prevoous
f>
Next
a
Lab Values
~
Notes
~
Calculator
,
Reverse Color
GJIIA)
Text Zoom

serum immunoglobulin concentrations. Infants with XLA are predisposed to recurrent

sinopulmonary infections with encapsulated organisms such as Haemophilus
influenzae and Streptococcus pneumoniae due to impaired humoral immunity response.
The absence of lgA leads to increased risk for gastrointestinal infections (eg, Giardia).
Patients usually present after age 6 months, when protection from maternally-acquired
lgG begins to wane.
Treatment of XLA is based on restoring serum immunoglobulin concentrations, which is
accomplished by administering monthly intravenous immunoglobulin. Antibiotics are
given for infections and may be given prophylactically if intravenous immunoglobulin
alone is unsuccessful. Live vaccines are contraindicated in XLA; other vaccines are not
contraindicated but are incapable of generating a meaningful antibody response in
patients with XLA.
(Choice B) Adenosine deaminase deficiency is one of several gene defects resulting in
impaired T cell development and causing severe combined immunodeficiency. Affected
patients present with severe, recurrent viral, fungal (eg, Candida), and bacterial
infections and failure to thrive.

(Choice C) Patients with complement deficiencies are at increased risk for disseminated
bacterial infections, particularly with encapsulated bacteria (eg, Streptococcus
pneumoniae, Neisseria meningitidis). Giardia infection is not associated with
complement deficiencies.
(Choice 0 ) Impaired oxidative burst occurs in chronic granulomatous disease. Patients
with this disease have recurrent skin and pulmonary infections with catalase-positive
organisms (eg, Staphylococcus aureus, Serratia marcescens).
(Choice E) Thymic hypoplasia is consistent with DiGeorge syndrome (22q11 .2
microdeletion syndrome.), which is characterized by hypocalcemia, cardiac defects, and
failure to thrive in addition to recurrent infections.

Educational objective:
X-linked agammaglobulinemia (Bruton agammaglobulinemia) results from a failure of B
cell development. Affected patients have small or absent lymphoid tissue and experience
recurrent sinopulmonary and gastrointestinal infections once protection from
transplacental maternal antibody wanes.

References:
1. X-linked agammaglobulinemia.

Time Spent 2 seconds Copyright © UWorld Last updated: (11/06/2016)

Feedback EnQ ock

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~-